Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80356611
rs80356611
0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.710 1.000 0 2006 2006
dbSNP: rs193922565
rs193922565
1.000 0.120 11 17388087 missense variant A/G snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0